Genetic Testing May Alter Care For Almost Half With Neurodevelopmental Disorders

Including genetic testing in evaluations of children with autism, developmental delay and other neurodevelopmental disorders often leads to important changes in care, researchers say.

in a study Examining the medical records of 316 children treated at a multidisciplinary clinic at the University of California, Los Angeles, researchers found that 42% of those who underwent genetic testing found that they had or probably had a rare genetic condition.

This genetic information caused 70% of patients to be referred to cardiac, gastrointestinal, or other specialists. And nearly a third of the children learned about possible medical problems to look out for.

Additionally, the diagnoses led some children to change medications or be referred to a clinical trial.

«This study shows that taking a genetics-based approach to neuropsychiatric care can make a significant difference for patients with neurodevelopmental disorders,» said Dr. Aaron Besterman of the Rady Children’s Institute for Genomic Medicine in San Diego, senior author of the study.

The researchers said their findings show how genetic testing can lead to more individualized care and emphasized the need for genomic medicine to be a priority in the training of doctors.

«Early testing really transforms the care a patient receives,» said Dr. Julián Martínez, a medical geneticist at UCLA Health and author of the study.